A7A (p.Ala7Ala) variant of CLCN5 (P51795)
A7A (p.Ala7Ala) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- gnomAD X-50042320-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 11.40
- Population evidence available
- Structural context available
- Literature evidence available